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Condition report · Musculoskeletal

Kabuki Syndrome

A rare genetic syndrome, usually arising new in a child, with distinctive facial features, learning difficulties and differences in several organ systems.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Kabuki syndrome

A multi-system condition caused by KMT2D (type 1) or KDM6A (type 2) variants, with characteristic facial features, short stature and intellectual disability, and sometimes heart, kidney and immune problems or low blood sugar.

What a diagnosis changes

Diagnosis guides screening for heart, kidney, hearing, immune and blood sugar problems.

Genes analysed

Also known as

Kabuki make-up syndrome; KMS; Niikawa-Kuroki syndrome; NKS

Includes 2 related subtypes ↓
  • Kabuki syndrome 1
  • Kabuki syndrome 2
MONDO:0016512Orphanet 2322MedGen 162897

Limitations

  • Deletions of the KDM6A gene cause some cases of Kabuki syndrome type 2 and may not be detected.

Other musculoskeletal conditions

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